Inflammatory skin and bowel disease linked to ADAM17 deletion

  • Blaydon D
  • Biancheri P
  • Di W
 et al. 
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We performed genetic and immunohistochemical studies in a sister and brother with autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly at 12 years of age from parvovirus B19-associated myocarditis; her brother had mild cardiomyopathy. We identified a loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumor necrosis factor α [TNF-α]-converting enzyme, or TACE), as the probable cause of this syndrome. Peripheral-blood mononuclear cells (PBMCs) obtained from the brother at 17 years of age showed high levels of lipopolysaccharide-induced production of interleukin-1β and interleukin-6 but impaired release of TNF-α. Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.).

Author-supplied keywords

  • *Sequence Deletion
  • ADAM Proteins/*genetics
  • Adolescent
  • Child
  • Fatal Outcome
  • Female
  • Humans
  • Inflammatory Bowel Diseases/*genetics
  • Male
  • Myocarditis/genetics/virology
  • Pedigree
  • Skin Diseases/*genetics

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  • Diana C Blaydon

  • Paolo Biancheri

  • Wei-Li Di

  • Vincent Plagnol

  • Rita M Cabral

  • Matthew A Brooke

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